Clinical and molecular characterization of 40 patients with classic Ehlers-Danlos syndrome: Identification of 18 COL5A1 and 2 COL5A2 novel mutations

Marco Ritelli, Chiara Dordoni, Marina Venturini, Nicola Chiarelli, Stefano Quinzani, Michele Traversa, Nicoletta Zoppi, Annalisa Vascellaro, Anita Wischmeijer, Emanuela Manfredini, Livia Garavelli, Piergiacomo Calzavara-Pinton, Marina Colombi

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Medicine & Life Sciences